Blood and Lymph Diseases
Anemia, sickle cell -Sickle cell anemia is the most common inherited blood disorder in the United
States. SCA is characterized by episodes of pain, chronic hemolytic anemia and severe infections,
usually beginning in early childhood.
Hemophilia A - Hemophilia A is a hereditary blood disorder, primarily affecting males.
Leukemia, chronic myeloid - Chronic myeloid leukemia (CML) is a cancer of blood cells,
characterized by replacement of the bone marrow with malignant, leukemic cells.
Thalassemia - is an inherited disease of faulty synthesis of hemoglobin.
Cancers
Breast and ovarian cancer - Breast cancer is the second major cause of cancer death in American
women, with an estimated 44,190 lives lost (290 men and 43,900 women) in the US in 1997.
While ovarian cancer represents 4% of all female cancers.
Burkitt lymphoma - is a rare form of cancer predominantly affecting young children in Central
Africa.
Colon cancer - Colon cancer is one of the most common inherited cancer syndromes known.
Leukemia, chronic myeloid - is a cancer of blood cells, characterized by replacement of the bone
marrow with malignant, leukemic cells.
Lung carcinoma, small cell - In the US, lung cancer is the most common cause of cancer deaths
among both men and women.
Malignant melanoma - the most aggressive kind of skin cancer.
Neurofibromatosis - is a rare inherited disorder characterized by the development of benign
tumors on both auditory nerves
Pancreatic cancer - The pancreas is responsible for producing the hormone insulin, along with
other substances.
Prostate cancer - The second leading cause of cancer death in American men.
Tuberous sclerosis - Tuberous sclerosis is an hereditary disorder characterized by benign, tumorlike nodules of the brain and/or retinas, skin lesions, seizures and/or mental retardation. Patients
may experience a few or all of the symptoms with varying degrees of severity.
The Digestive System
Crohn's disease - is a group of chronic disorders that causes inflammation or ulceration in the
small and large intestines.
Cystic fibrosis - Cystic fibrosis (CF) is the most common fatal genetic disease in the US today. It
causes the body to produce a thick, sticky mucus that clogs the lungs, leading to infection, and
blocks the pancreas, stopping digestive enzymes from reaching the intestines where they are
required to digest food.
Diabetes, type 1 - is a chronic metabolic disorder that adversely affects the body's ability to
manufacture and use insulin, a hormone necessary for the conversion of food into energy. The
disease greatly increases the risk of blindness, heart disease, kidney failure, neurological disease,
and other conditions
Glucose galactose malabsorption - is a rare metabolic disorder caused by a defect in glucose and
galactose transport across the intestinal lining. GGM is characterized by severe diarrhea and
dehydration as early as the first day of life and can result in rapid death
. Ear, Nose, and Throat
Deafness
Diseases of the Eye
Glaucoma - Glaucoma" is a term used for a group of diseases that can lead to damage to the eye's
optic nerve and result in blindness.
Retinoblastoma - tumor develops from the immature retina - the part of the eye responsible for
detecting light and color.
Female-Specific Diseases
Rett syndrome - begin to lose purposeful use of their hands and speech. Affected individuals also
show reduced muscle tone, wringing hand movements, autistic-like behavior and seizures.
Turner Syndrome – females with only one X chromosome
Triple X syndrome - affects females only, they have three X chromosomes
Glands and Hormones
Adrenal hyperplasia, congenital - affects the adrenal glands. The production of several important
hormones is blocked.
Adrenoleukodystrophy - the fatty covering (myelin sheath) on nerve fibers in the brain is lost, and
the adrenal gland degenerates, leading to progressive neurological disability and death.
Breast and ovarian cancer
Cockayne syndrome - people are sensitive to sunlight, have short stature, and have the appearance
of premature aging.
Diastrophic dysplasia - patients are usually short, have club feet, and have malformed hands and
joints.
PKU (phenylketonuria) – disorder of the body chemistry and if left untreated causes mental
retardation.
The Heart and Blood Vessels
Ataxia telangiectasia - a progressive, degenerative disease characterized by cerebellar
degeneration, immunodeficiency, radiosensitivity (sensitivity to radiant energy, such as x-ray), and
a predisposition to cancer.
Atherosclerosis - characterized by a narrowing of the arteries caused by cholesterol-rich plaques of
immune system cells.
Von Hippel-Lindau syndrome - abnormal growth of blood vessels
Williams syndrome - "elfin-like" facial features, heart and blood vessel problems, irritability
during infancy, dental and kidney abnormalities, hyperacusis (sensitive hearing) and
musculoskeletal problems.
Diseases of the Immune System
Asthma - It is a chronic inflammatory disorder of the airways characterized by coughing, shortness
of breath, and chest tightness.
Severe combined immunodeficiency - little or no immune response
Male-Specific Diseases
Klinefelter Syndrome – boys with two X chromosomes and one Y chromosome.
Male pattern baldness
SRY: Sex determination - SRY (which stands for sex-determining region Y gene
Muscle and Bone
Achondroplasia - dwarfism
Diastrophic dysplasia - patients are usually short, have club feet, and have malformed hands and
joints
Duchenne muscular dystrophy - muscle degeneration
Ellis-van Creveld syndrome - dwarfism, polydactyly (additional fingers or toes),
Fibrodysplasia ossificans progressiva - causes muscle to be turned into bone.
Marfan syndrome - characterized by unusually long limbs, and is believed to have affected
Abraham Lincoln.
Osteogenesis Imperfecta – brittle bone disease
Progeria - a rare condition characterized by an appearance of accelerated aging.
Neonatal Diseases
Angelman syndrome - characterized by mental retardation, abnormal gait, speech impairment,
seizures, and an inappropriate happy demeanor that includes frequent laughing, smiling, and
excitability.
Cystic fibrosis
Fragile X syndrome - most common inherited form of mental retardation
Prader-Willi syndrome - characterized by mental retardation, decreased muscle tone, short stature,
emotional lability and an insatiable appetite which can lead to life-threatening obesity.
Waardenburg syndrome - a wide bridge of the nose; pigmentary disturbances such as two different
colored eyes, white forelock and eyelashes and premature graying of the hair; and some degree of
cochlear deafness.
Werner syndrome - premature aging disease that begins in adolescence or early adulthood and
results in the appearance of old age by 30-40 years of age.
The Nervous System
Alzheimer disease - progressive inability to remember facts and events and, later, to recognize
friends and family.
Amyotrophic lateral sclerosis - degeneration of motor neuron cells in the spinal cord and brain,
which ultimately results in paralysis and death.
Epilepsy - recurring seizures resulting from abnormal cell firing in the brain.
Huntington disease - degenerative neurological disease that leads to dementia.
Narcolepsy - Affected individuals are extremely drowsy during the daytime and may fall into a
deep sleep at any time.
Parkinson disease - manifests as a tremor, muscular stiffness and difficulty with balance and
walking.
Tay-Sachs disease - exhibit paralysis, dementia, blindness and early death to a chronic adult form
that exhibits neuron dysfunction and psychosis.
Nutritional and Metabolic Diseases
Hereditary hemochromatosis - increases the amount of iron that the body absorbs from the gut.
Symptoms are caused by this excess iron being deposited in multiple organs of the body. Most
commonly, excess iron in the liver causes cirrhosis, which may develop into liver cancer. Iron
deposits in the pancreas can result in diabetes. Similarly, excess iron stores can cause
cardiomyopathy, pigmentation of the skin, and arthritis.
Obesity - Obesity is a known risk factor for chronic diseases including heart disease, diabetes,
high blood pressure, stroke and some forms of cancer. Evidence suggests that obesity has more
than one cause: genetic, environmental, psychological and other factors may all play a part.